Canonical Allele Identifier: CA515464898

Gene: PIGA

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.15325922C>G , CM000685.2:g.15325922C>G	GRCh38
NC_000023.10:g.15344044C>G , CM000685.1:g.15344044C>G	GRCh37
NC_000023.9:g.15253965C>G	NCBI36
NG_009786.1:g.14617G>C , LRG_160:g.14617G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002641.4:c.840G>C MANE Select	NP_002632.1:p.Leu280=
ENST00000333590.6:c.840G>C MANE Select	ENSP00000369820.3:p.Leu280=
NM_002641.3:c.840G>C , LRG_160t1:c.840G>C	NP_002632.1:p.Leu280=
NM_020473.3:c.138G>C	NP_065206.3:p.Leu46=
NR_033835.1:n.582G>C
NR_033836.1:n.298G>C
ENST00000333590.5:c.840G>C	ENSP00000369820.3:p.Leu280=
ENST00000474662.2:n.267G>C
ENST00000482148.6:c.342-770G>C	ENSP00000489528.1:n.342-770G>C
ENST00000542278.6:c.840G>C	ENSP00000442653.2:p.Leu280=
ENST00000634286.1:c.453G>C	ENSP00000489491.1:n.453G>C
ENST00000634582.1:c.138G>C	ENSP00000489540.1:p.Leu46=
ENST00000634640.1:c.-106G>C	ENSP00000489083.1:n.-106G>C
ENST00000635045.1:n.925G>C
ENST00000635480.1:n.462G>C
ENST00000635598.1:c.*109G>C	ENSP00000489207.1:n.*109G>C
ENST00000635631.1:n.181G>C
ENST00000637296.1:c.-106G>C	ENSP00000490545.1:n.-106G>C
ENST00000637626.1:c.*321G>C	ENSP00000489928.1:n.*321G>C
ENST00000638131.1:c.*101G>C	ENSP00000490483.1:n.*101G>C
XM_011545539.1:c.147G>C	XP_011543841.1:p.Leu49=
XM_011545539.2:c.147G>C	XP_011543841.1:p.Leu49=